Product Details

SNP ID
rs149324758
Assay Type
Functionally Tested
NCBI dbSNP Submissions
17
Location
Chr.1:220094239 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCATGCGTTGGGGGCTGCGCCCTC[G/T]CGGGCCGGGCGCGGCCGCCCTGGCC
Phenotype
MIM: 604053 MIM: 612801
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
BPNT1 PubMed Links

Gene Details

Gene
BPNT1
Gene Name
3'(2'), 5'-bisphosphate nucleotidase 1
There are no transcripts associated with this gene.

Gene
IARS2
Gene Name
isoleucyl-tRNA synthetase 2, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018060.3 127 Missense Mutation CGC,CTC R8L NP_060530.3

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